Varaico: Literature-Extracted Genetic Variants

BAP1

1,324 papers

RefSeq Summary

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer...

Pfam Domains

Peptidase_C12aa 5–215UCSCUbiquitin carboxyl-terminal hydrolase, family 1

UCH_Caa 643–688UCSCUbiquitin carboxyl-terminal hydrolases

Gene Aliases

HGNC Name

BRCA1 associated deubiquitinase 1

HGNC Alias Symbols

hucep-6; KIAA0272; UCHL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004656.4

p.N670_T677Fs

c.2009_2031delinsTFs

Surrounding Variants

1 paper

NM_004656.4

p.T677T

c.2031C>T

1 paper

NM_004656.4

p.T677fs

c.2029_2030fs

1 paper

NM_004656.4

p.D672_T677delFs

c.2014_2030del17

1 paper

NM_004656.4

p.F678L

c.2032T>C

1 paper

NM_004656.4

p.E673_T677delFs

c.2019_2029del11

1 paper

NM_004656.4

p.N670_T677del0

c.2009_2029del21

2 papers

NM_004656.4

p.F678fs

c.2032_2033fs

2 papers

NM_004656.4

p.F678L

c.2034T>G

1 paper

NM_004656.4

p.F678F

c.2034T>C

1 paper

NM_004656.4

p.F678L

c.2034T>A

1 paper

NM_004656.4

p.C676C

c.2028C>T

1 paper

NM_004656.4

p.C676fs

c.2026_2027fs